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BMC Medical Genetics

Open Access

Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China

  • Ning Liu1,
  • Qiuying Huang2,
  • Qingge Li2,
  • Dehua Zhao3,
  • Xiaole Li3,
  • Lixia Cui4,
  • Ying Bai1,
  • Yin Feng1 and
  • Xiangdong Kong1Email author
BMC Medical GeneticsBMC series – open, inclusive and trusted201819:6

https://doi.org/10.1186/s12881-017-0516-2

Received: 21 December 2017

Accepted: 21 December 2017

Published: 9 January 2018

The original article was published in BMC Medical Genetics 2017 18:108

Correction

Following publication of the original article [1], the authors reported an error in Table 3 on page 4. Variant No. 18 should be “p.Ser339Phe c.1016C>T” (as given in Number 117 of Additional file 2). Other errors were found in the original Additional file 2, which has been replaced with an updated version (see below).

Additional file 2. Spectrum of PAH gene variants in a Chinese Han population

Number

Trivial name

(Protein effect)

Systematic name

(DNA level)

Location

Variant type

Allele frequency

(%)

1

p.S16*

c.47-48delCT

Exon 1

Deletion

0.2

2

c.61-3T>C

Intron 1

Splicing

0.1

3

p.Arg53His

c.158G>A

Exon 2

Missense

4.7

4

p.Arg53Cys

c.157C>T

Exon 2

Missense

0.1

5

p.Glu44del

c.131-133delAAG

Exon 2

Deletion

0.2

6

p.Glu56Asp

c.168G>T

Exon 2

Missense

0.1

7

c.168+2T>C

Intron 2

Splicing

0.1

8

c.168+5G>C

Intron 2

Splicing

0.1

9

p.Ile65Thr

c.194T>C

Exon 3

Missense

0.5

10

p.Ile65Ser

c.194T>G

Exon 3

Missense

0.2

11

p.Ser70del

c.208-210delTCT

Exon 3

Deletion

2.5

12

p.Asp75His

c.223G>C

Exon 3

Missense

0.1

13

p.Tyr77*

c.231T>G

Exon 3

Nonsense

0.1

14

p.Ile94Val

c.280A>G

Exon 3

Missense

0.1

15

p.Asp101Asn

c.301G>A

Exon 3

Missense

0.3

16

p.Gly103Asp

c.308G>A

Exon 3

Missense

0.2

17

p.His107Arg

c.320A>G

Exon 3

Missense

1.8

18

p.Arg111*

c.331C>T

Exon 3

Nonsense

4.4

19

p.Glu78Phefs*13

c.232-235delGAAT

Exon 3

Deletion

0.1

20

p.Ile95del

c.284-286deTCA

Exon 3

Deletion

0.1

21

IVS3-2A>G

c.353-2A>G

Intron3

Splicing

0.1

22

p.Pro147Leu

c.440C>T

Exon 4

Missense

0.2

23

c.441+1G>A

Intron 4

Splicing

0.1

24

c.441+3G>C

Intron 4

Splicing

0.4

25

c.442-1G>A

Intron 4

Splicing

3.4

26

c.442-1G>C

Intron 4

Splicing

0.1

27

c.442-14C>T

Intron 4

Splicing

0.1

28

p.Tyr154*

c.462C>A

Exon 5

Nonsense

0.1

29

p.Arg155His

c.464G>A

Exon 5

Missense

0.2

30

p.Arg156Pro

c.466G>C

Exon 5

Missense

0.2

31

p.Arg158Trp

c.472C>T

Exon 5

Missense

0.5

32

p.Arg158Gln

c.473G>A

Exon 5

Missense

0.5

33

p.Gln160*

c.478 C>T

Exon 5

Nonsense

0.2

34

p.Phe161Ser

c.482T>C

Exon 5

Missense

1.0

35

p.Ala165Asp

c.494C>A

Exon 5

Missense

0.1

36

p.Tyr166*

c.498C>G

Exon 5

Nonsense

0.6

37

p.Arg169Ser

c.505C>A

Exon 5

Missense

0.1

38

p.Arg169Cys

c.505C>T

Exon 5

Missense

0.2

39

p.Arg169His

c.506G>A

Exon 5

Missense

0.1

40

p.His170Arg

c.509A>G

Exon 5

Missense

0.1

41

p.His170Gln

c. 510T>A

Exon 5

Missense

0.3

42

p.Arg155Valfs*40

c.463delC

Exon 5

Deletion

0.1

43

c.509+1G>A

Intron 5

Splicing

0.1

44

c.510-1G>A

Intron 5

Splicing

0.1

45

c.510-1G>C

Intron 5

Splicing

0.1

46

p.Gly171Arg

c.511G>A

Exon 6

Missense

0.1

47

p.Gln172His

c.516G>T

Exon 6

Missense

0.1

48

p.Arg176*

c.526C>T

Exon 6

Nonsense

2.0

49

p.Glu178Lys

c.532 G>A

Exon 6

Missense

0.1

50

p.Glu183Gly

c.548A>G

Exon 6

Missense

0.1

51

p.Trp187*

c.561G>A

Exon 6

Nonsense

0.1

52

p.Trp187Arg

c.559T>C

Exon 6

Missense

0.1

53

p.Gly188Val

c.563G>T

Exon 6

Missense

0.1

54

p.His201Arg

c.602A>G

Exon 6

Missense

0.1

55

p.Cys203Ser

c.607T>A

Exon 6

Missense

0.1

56

p. Ex6-96A>G

c.611A>G

Exon 6

Splicing

0.1

57

p.Cys217Tyr

c.650G>A

Exon 6

Missense

0.1

58

p.Ile224Thr

c.671T>C

Exon 6

Missense

0.4

59

p.Leu227Val

c.679C>G

Exon 6

Missense

0.1

60

p.Glu228Asp

c.684A>C

Exon 6

Missense

0.1

61

p.Val230Ile

c.688G>A

Exon 6

Missense

0.5

62

p.Val230A

c.689T>C

Exon 6

Missense

0.1

63

p.Gln232*

c.694C>T

Exon 6

Nonsense

0.2

64

p.Phe233Leu

c.699C>A

Exon 6

Missense

0.2

65

p.Leu194Glufs*6

c.580C>GA

Exon 6

Indel

0.1

66

p.Ser231Valfs*52

c.690-691insG

Exon 6

Insertion

0.1

67

c.707-1G>A

Intron 6

Splicing

0.2

68

p.Arg241Cys

c.721C>T

Exon 7

Missense

4.6

69

p.Arg241His

c.722G>A

Exon 7

Missense

0.4

70

p.Arg241Leu

c.722G>T

Exon 7

Missense

0.1

71

p.Leu242Phe

c.724C>T

Exon 7

Missense

0.2

72

p.Arg243Gln

c.728G>A

Exon 7

Missense

17.7

73

p.Arg243*

c.727C>T

Exon 7

Nonsense

0.1

74

p.Val245Met

c.733G>A

Exon 7

Missense

0.1

75

p.Gly247Val

c.740G>T

Exon 7

Missense

1.5

76

p.Gly247Arg

c.739G>C

Exon 7

Missense

0.7

77

p.Ser250Phe

c.749C>T

Exon 7

Missense

0.1

78

p.Arg252Gln

c.755G>A

Exon 7

Missense

0.6

79

p.Arg252Trp

c.754C>T

Exon 7

Missense

0.3

80

p.Arg252Gly

c. 754C>G

Exon 7

Missense

0.1

81

p.Arg252Pro

c.755G>C

Exon 7

Missense

0.1

82

p.Leu255Ser

c.764T>C

Exon 7

Missense

0.4

83

p.Gly257Val

c.770G>T

Exon 7

Missense

0.6

84

p.Arg261Gln

c.782G>A

Exon 7

Missense

1.7

85

p.Arg261*

c.781C>T

Exon 7

Nonsense

0.1

86

p.Phe263Leu

c.787T>C

Exon 7

Missense

0.1

87

p.Gln267Glu

c.799C>G

Exon 7

Missense

0.2

88

p.Tyr268*

c.804C>A

Exon 7

Nonsense

0.1

89

p.Arg270Lys

c.809G>A

Exon 7

Missense

0.2

90

p.Arg270Ile

c. 809G>T

Exon 7

Missense

0.1

91

p.His271Arg

c.812A>G

Exon 7

Missense

0.1

92

p.Pro275Leu

c.824C>T

Exon 7

Missense

0.2

93

p.Met276Lys

c.827T>A

Exon 7

Missense

0.2

94

p.Met276Arg

c.827T>G

Exon 7

Missense

0.1

95

p.Thr278Ile

c.833C>T

Exon 7

Missense

0.1

96

p.Glu280Lys

c.838G>A

Exon 7

Missense

0.4

97

p.Pro281Arg

c.842C>G

Exon 7

Missense

0.1

98

p.Arg241Profs*100

c.722delG

Exon 7

Deletion

0.5

99

c.842+1G>A

Intron 7

Splicing

0.2

100

c.843-1G>A

Intron 7

Splicing

0.2

101

c.842+2T>A

Intron 7

Splicing

1.5

102

p.Val291Met

c.871G>A

Exon 8

Missense

0.1

103

p.Ala300Ser

c.898G>T

Exon 8

Missense

0.1

104

p.Ser303Pro

c.907T>C

Exon 8

Missense

0.1

105

p.Ser303Profs*38

c.907delT

Exon 8

Deletion

0.1

106

c.912+1G>A

Intron 8

Splicing

0.1

107

c.912+16T>A

Intron 8

Splicing

0.1

108

c.913-7A>G

Intron 8

Splicing

0.2

109

p.Ser310Phe

c.929C>T

Exon 9

Missense

0.1

110

p.Ser310Cys

c.929C>G

Exon 9

Missense

0.1

111

p.Gly312Val

c.935G>T

Exon 9

Missense

0.1

112

p.Pro314Thr

c.940C>A

Exon 9

Missense

0.4

113

p.Ala322Thr

c.964G>A

Exon 9

Missense

0.2

114

p.Ile324Asn

c.971T>A

Exon 10

Missense

0.4

115

p.Trp326*

c.977G>A

Exon 10

Nonsense

0.2

116

p.Phe331Ser

c.992T>C

Exon 10

Missense

0.1

117

p.Ser339Phe

c.1016C>T

Exon 10

Missense

0.1

118

p.Lys341Asn

c.1023G>C

Exon 10

Missense

0.1

119

p.Ala342Hisfs*58

c.1024delG

Exon 10

Deletion

0.1

120

p.Gly344Asp

c.1031G>A

Exon 10

Missense

0.1

121

p.Gly344Ser

c.1030G>A

Exon 10

Missense

0.1

122

p.Ala345Thr

c.1033G>A

Exon 10

Missense

0.1

123

p.Ser349Ala

c.1045T>G

Exon 10

Missense

0.4

124

p.Gly352Arg

c.1054G>C

Exon 10

Missense

0.1

125

p.Gln355*

c.1063C>T

Exon 10

Nonsense

0.1

126

c.1066-1G>T

Intron 10

Splicing

0.2

127

c.1066-11G>A

Intron 10

Splicing

0.1

128

c.1066-13delT

Intron 10

Splicing

0.1

129

c.1066-14C>G

Intron 10

Splicing

0.1

130

p.Tyr356*

c.1068C>A

Exon 11

Nonsense

4.7

131

p.Cys357*

c.1071C>A

Exon 11

Nonsense

0.1

132

p.Pro362Ser

c.1084C>T

Exon 11

Missense

0.1

133

p.Pro362Thr

c.1084C>A

Exon 11

Missense

0.1

134

p.Lys363Asn

c.1089G>T

Exon 11

Missense

0.2

135

p.Pro366Ala

c.1096C>G

Exon 11

Missense

0.1

136

p.Thr372Ser

c.1114A>T

Exon 11

Missense

0.1

137

p.Thr372Arg

c.1115 C>G

Exon 11

Missense

0.1

138

p.Ala373Thr

c.1117G>A

Exon 11

Missense

0.1

139

p.Gln375Glu

c.1123C>G

Exon 11

Missense

0.3

140

p.Thr380Met

c.1139C>T

Exon 11

Missense

0.2

141

p.Val388Met

c.1162G>A

Exon 11

Missense

0.1

142

p.Ser391Thr

c.1172G>C

Exon 11

Missense

0.1

143

p.Phe392Ile

c.1174T>A

Exon 11

Missense

0.4

144

p.Lys398=

c.1194A>G

Exon 11

Splicing

0.1

145

p.Val399=

c.1197A>T

Exon 11

Splicing

6.4

146

p.Arg400Thr

c.1199G>C

Exon 11

Missense

0.5

147

p.Arg400Lys

c.1199G>A

Exon 11

Missense

0.2

148

c.1199+1G>C

Intron11

Splicing

0.2

149

c.1199+2T>C

Intron 11

Splicing

0.2

150

c.1200-1G>C

Intron 11

Splicing

0.1

151

c.1200-1G>A

Intron 11

Splicing

0.2

152

c.1200-3T>G

Intron11

Splicing

0.2

153

p.Ala403Val

c.1208C>T

Exon 12

Missense

1.0

154

p.Arg408Trp

c.1222C>T

Exon 12

Missense

0.4

155

p.Arg408Gln

c.1223G>A

Exon 12

Missense

0.6

156

p.Arg413Pro

c.1238G>C

Exon 12

Missense

4.6

157

p.Tyr414*

c.1242C>A

Exon 12

Nonsense

0.1

158

p.Asp415Tyr

c.1243G>T

Exon 12

Missense

0.1

159

p.Thr418Pro

c.1252A>C

Exon 12

Missense

0.6

160

p.Gln419Arg

c.1256A>G

Exon 12

Missense

0.7

161

p.Ile421Thr

c.1262T>C

Exon 12

Missense

0.2

162

p.Gln429Lys

c.1285C>A

Exon 12

Missense

0.1

163

p.Leu430Pro

c.1289T>C

Exon 12

Missense

0.2

164

p.Ala434Asp

c.1301C>A

Exon 12

Missense

1.7

165

c.1315+4A>G

Intron 12

Splicing

0.1

166

c.1315+6T>A

Intron 12

Splicing

0.3

167

c.1316-2A>C

Intron 12

Splicing

0.2

168

p.Leu444Phe

c.1330C>T

Exon 13

Missense

0.1

169

p.*453Proext*33

c.1357delTAAAG

Exon 13

Deletion

0.1

170

 

5’ UTR

~E1

Deletion

0.6

171

c.(168+1_169-1)_c. (352+1_353-1)del

E3

Deletion

0.1

172

c. (441+1_442-1)_(842+1_843-1)del

E4~E7

Deletion

0.1

173

c. (441+1_442-1) _c. (509+1_510-1)del

E5

Deletion

0.1

174

c. (441+1_442-1)_(509+1_510-1)del

E4~E5

Deletion

0.2

Detected

96.6

Unknown

3.4

Total

100

Novel alleles identified in the current study.

Notes

Declarations

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

Authors’ Affiliations

(1)
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Henan Engineering Research Center for Gene Editing of Human Genetic Disease, Zhengzhou, People’s Republic of China
(2)
State Key Laboratory of Cellular Stress Biology, State Key Laboratory of Molecular Vaccinology and Molecular Diagnostics, Engineering Research Centre of Molecular Diagnostics, Ministry of Education, School of Life Sciences, Xiamen University, Xiamen, People’s Republic of China
(3)
Neonatal Screening Center, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, People’s Republic of China
(4)
Neonatal Screening Center, Zhengzhou Maternity and Child Care Hospital, Zhengzhou, People’s Republic of China

Reference

  1. Liu N, Huang Q, Li Q, Zhao D, Li X, Cui L, Bai Y, Feng Y, Kong X. Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China. BMC Med Genet. 2017;18:108. doi: 10.1186/s12881-017-0467-7.

Copyright

© The Author(s). 2018

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